نتایج جستجو برای: vi mps
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Mucopolysaccharidosis (MPS) is a genetic disorder characterized by the accumulation of glycosaminoglycans in the body. Of the multiple MPS disease subtypes, several are caused by defects in sulfatases. Specifically, a defect in iduronate-2-sulfatase (ID2S) leads to MPS II, whereas N-acetylgalactosamine-6-sulfatase (GALN) and N-acetylgalactosamine-4-sulfatase (ARSB) defects relate to MPS IVA and...
Este estudo tem como objetivo mensurar a independência funcional de pacientes pediátricos com diagnóstico mucopolissacaridoses (MPS) na realização das atividades diárias. é um descritivo e transversal realizado enzimático confirmado para mucopolissacaridoses, atendidos no ambulatório Ortopedia hospital do interior da Bahia, Brasil. Os dados foram coletados entre outubro 2016 março 2017 partir a...
Feline mucopolysaccharidosis VI (MPS VI) is a recessively inherited deficiency of arylsulfatase B (ASB). In the eye, the disease is expressed by the intracytoplasmic accumulation of vacuolated inclusions. These are present in connective tissue cells in the cornea, conjunctiva, sclera, choroid, and the stroma of the iris and ciliary body. In the iris and ciliary body epithelia, only the nonpigme...
BACKGROUND. The objective of this study is to evaluate the response of the musculoskeletal system to enzyme replacement therapy in a group of patients with Mucopolysaccharidosis (MPS). MATERIAL AND METHODS. A retrospective study was done based on records from 22 patients with different types of MPS (I, II and VI) who were treated with enzyme replacement therapy (ERT). Patient data were evaluate...
Mucopolysaccharide diseases (MPS) are caused by deficiency of glycosaminoglycan (GAG) degrading enzymes, leading to GAG accumulation. Neurodegenerative MPS diseases exhibit cognitive decline, behavioural problems and shortened lifespan. We have characterised neuropathological changes in mouse models of MPSI, IIIA and IIIB to provide a better understanding of these events.Wild-type (WT), MPSI, I...
this article reviews will focus on the concept and formation of micro particles (mps) in circulation and their role in transfusion medicine and immune system. mps are cell membrane derived vesicles which express markers of their parent cells and are found in circulation at low levels. exact functions of mps are unclear. in here, physiological almost all types of circulating mps including platel...
in 1902, well known archibald garrod applied mendels gene concept to human characters. he opened a new window in understanding the etiology of metabolic disorders. he proposed biochemical changes as the etiology of metabolic disorders in his series of papers inborn errors of metabolism (1906). after establishing prenatal diagnosis facilities for the detection of chromosomal abnormalities in our...
Type I mucopolysaccharidosis (MPS I) is an autosomal recessive lysosomal storage disorder with neurological features. Humans and laboratory animals with MPS I exhibit various white matter abnormalities involving the corpus callosum and other regions. In this study, we first validated a novel MRI technique, entitled Relaxation Along a Fictitious Field in the rotating frame of rank n (RAFFn), as ...
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